ClinVar Miner

List of variants in gene GCSH studied for Non-ketotic hyperglycinemia

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004483.5(GCSH):c.159C>T (p.Phe53=) rs8177876 0.05863
NM_004483.5(GCSH):c.252T>C (p.Tyr84=) rs8177907 0.03948
NM_004483.5(GCSH):c.261C>G (p.Leu87=) rs8177908 0.03948
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser) rs8177877 0.03699
NM_004483.5(GCSH):c.292+9T>G rs8177909 0.00574
NM_004483.5(GCSH):c.196A>T (p.Ile66Phe) rs368716465 0.00004
NM_004483.5(GCSH):c.228+8A>C rs375928222 0.00004
NM_004483.5(GCSH):c.425-18G>A rs200332491 0.00004
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter) rs769222264 0.00002
NM_004483.5(GCSH):c.505A>C (p.Lys169Gln) rs1189328619 0.00002
NM_004483.5(GCSH):c.514G>A (p.Glu172Lys) rs760566469 0.00002
NM_004483.5(GCSH):c.153T>C (p.Arg51=) rs142243166 0.00001
NM_004483.5(GCSH):c.231A>C (p.Glu77Asp) rs1236344907 0.00001
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn) rs779721507 0.00001
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys) rs753037667 0.00001
NM_004483.5(GCSH):c.400G>A (p.Val134Ile) rs766903708 0.00001
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr) rs540817676 0.00001
NM_004483.5(GCSH):c.425-8G>C rs770923322 0.00001
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr) rs770835365 0.00001
GCSH, COMPLEX REARRANGEMENT
NC_000016.10:g.(?_81082846)_(81096298_?)del
NC_000016.9:g.(?_81121196)_(81129883_?)del
NM_004483.5(GCSH):c.149-3T>C rs1972381011
NM_004483.5(GCSH):c.151C>T (p.Arg51Cys) rs1972380968
NM_004483.5(GCSH):c.203C>T (p.Thr68Ile) rs145768524
NM_004483.5(GCSH):c.246T>A (p.Val82=) rs536733893
NM_004483.5(GCSH):c.254G>T (p.Cys85Phe) rs1972310010
NM_004483.5(GCSH):c.259C>A (p.Leu87Ile) rs2151769189
NM_004483.5(GCSH):c.292+10C>T rs571999768
NM_004483.5(GCSH):c.292+7G>A rs1972309218
NM_004483.5(GCSH):c.293-16dup rs202181338
NM_004483.5(GCSH):c.293-4T>C rs1555529308
NM_004483.5(GCSH):c.313A>G (p.Ser105Gly) rs747131765
NM_004483.5(GCSH):c.318G>A (p.Val106=)
NM_004483.5(GCSH):c.338_342del (p.Tyr113fs) rs1972233022
NM_004483.5(GCSH):c.375A>G (p.Glu125=) rs868224309
NM_004483.5(GCSH):c.423T>C (p.Asp141=) rs749405278
NM_004483.5(GCSH):c.425-1G>T rs386833859
NM_004483.5(GCSH):c.425G>T (p.Gly142Val)
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro) rs944048995
NM_004483.5(GCSH):c.502A>G (p.Ile168Val) rs1972198288
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe) rs1322444223

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